ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.1079-7C>T

gnomAD frequency: 0.00003  dbSNP: rs551934402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000892887 SCV001036794 benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702746 SCV001930889 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702746 SCV001970509 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000892887 SCV002095297 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2020-01-24 no assertion criteria provided clinical testing

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